chorea acanthocytosis

Summary

Gene Symbol: chorea acanthocytosis
Description: vacuolar protein sorting 13 homolog A (S. cerevisiae)
Alias: CHAC, CHOREIN, chorea-acanthocytosis protein, vacuolar protein sorting 13A, vacuolar protein sorting-associated protein 13A
Species: human

Top Publications

  1. pmc Roles of chondroitin sulfate and dermatan sulfate in the formation of a lesion scar and axonal regeneration after traumatic injury of the mouse brain
    Hong Peng Li
    Laboratory of Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Setagaya City, Tokyo, Japan
    J Neurotrauma 30:413-25. 2013
  2. doi Profiling the erythrocyte membrane proteome isolated from patients diagnosed with chronic obstructive pulmonary disease
    Bruno M Alexandre
    Laboratório de Proteômica, Departamento de Genetica, Instituto Nacional de Saúde Dr Ricardo Jorge INSA IP, Lisboa, Portugal
    J Proteomics 76:259-69. 2012
  3. doi Chorein sensitivity of actin polymerization, cell shape and mechanical stiffness of vascular endothelial cells
    Ioana Alesutan
    Department of Physiology, University of Tubingen, Tubingen, Germany
    Cell Physiol Biochem 32:728-42. 2013
  4. ncbi [A case of chorea-acanthocytosis onset with at age 86]
    Masamichi Ikawa
    Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui
    Rinsho Shinkeigaku 45:603-6. 2005
  5. ncbi Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    C Dobson-Stone
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Eur J Hum Genet 10:773-81. 2002
  6. ncbi Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis
    S Saiki
    Department of Neurology, Kanazawa Medical University, Ishikawa, Japan
    Neurology 61:1614-6. 2003
  7. ncbi Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis
    Abdullah Al-Asmi
    Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
    Epilepsia 46:1256-63. 2005
  8. pmc Alterations of red cell membrane properties in nneuroacanthocytosis
    Claudia Siegl
    Max F Perutz Laboratories, Medical University of Vienna, Vienna, Austria
    PLoS ONE 8:e76715. 2013
  9. pmc Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis
    Marie Miquel
    Service de Neurologie, CHU Bordeaux, Bordeaux, France Service de Neurologie, CH François Mitterrand, Pau, France
    PLoS ONE 8:e79241. 2013
  10. ncbi [Specific features of diagnosis of hormonal insufficiency in patients with tumors of the adrenal cortex]
    L I Velikanova
    Vestn Khir Im I I Grek 164:43-5. 2005

Scientific Experts

  • Lucia De Franceschi
  • Mark A Walterfang
  • Hans Michael Hubberten
  • Ruth H Walker
  • A Storch
  • Chiho Ishida
  • C Bayreuther
  • Hans Jurgen Huppertz
  • H H Jung
  • S Saiki
  • Mohammad Hossein Harirchian
  • Karsten Henkel
  • Alexander Lossos
  • Christine Klein
  • A Danek
  • Saeed A Bohlega
  • Libe Gradstein
  • IMRAN MUNGRUE
  • Akira Sano
  • Benedikt Bader
  • Masayuki Nakamura
  • Mio Ichiba
  • Carol Dobson-Stone
  • MARIA O DUARTE GARDEA
  • Maria Duarte Gardea
  • LI PEN CHAO
  • Yutaka Kurano
  • Emiko Mizuno
  • Antonio Velayos-Baeza
  • Guilherme Riccioppo Rodrigues
  • Anthony P Monaco
  • Ioana Alesutan
  • Christos Stournaras
  • Florian Lang
  • Eva Maria Schmidt
  • Andreas Hermann
  • Hyeeun Shin
  • Takehiro Hayashi
  • Michael Foller
  • Akiyuki Tomiyasu
  • A P Monaco
  • Asumi Agemura
  • Maiko Kato
  • Mieko Matsuda
  • Shinji Muroya
  • Akira Kusumoto
  • Yuko Tomemori
  • Nari Shiokawa
  • Claudia Siegl
  • Hong Peng Li
  • Marie Miquel
  • Shuchen Gu
  • Oliver Borst
  • Jin Whan Cho
  • Ludger Schols
  • Jennifer Müller vom Hagen
  • Bruno M Alexandre
  • Akhilesh Kumar
  • Fusako Yokochi
  • Dulce Neutel
  • Siamak Karkheiran
  • C Dobson-Stone
  • Chang Hyeok An
  • J P Rubio
  • Hirochika Shimo
  • Natlada Kanjanasut
  • Vitor Tumas
  • Shu Ichi Ueno
  • I Looi
  • L Rampoldi
  • José L Ruiz-Sandoval
  • Kirsten R Müller-Vahl
  • Shuji Izumo
  • G F Yi
  • Frederick Andermann
  • Masamichi Ikawa
  • Eva Andermann
  • Francois Dubeau
  • Abdullah Al-Asmi
  • L I Velikanova
  • Anthony E Lang
  • Mariarosa A B Melone
  • Antonella Russo
  • Jakob Voelkl
  • Mieko Sameshima
  • Holger Prokisch
  • Esther M Sammler
  • Monika Hartig
  • Chrystelle Latxague
  • Ulrich Salzer

Detail Information

Publications68

  1. pmc Roles of chondroitin sulfate and dermatan sulfate in the formation of a lesion scar and axonal regeneration after traumatic injury of the mouse brain
    Hong Peng Li
    Laboratory of Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Setagaya City, Tokyo, Japan
    J Neurotrauma 30:413-25. 2013
    ..By contrast, injection of chondroitinase AC (ChAC), a CS-degrading enzyme, did not suppress the fibrotic and glial scar formation, but reduced CS immunoreactivity ..
  2. doi Profiling the erythrocyte membrane proteome isolated from patients diagnosed with chronic obstructive pulmonary disease
    Bruno M Alexandre
    Laboratório de Proteômica, Departamento de Genetica, Instituto Nacional de Saúde Dr Ricardo Jorge INSA IP, Lisboa, Portugal
    J Proteomics 76:259-69. 2012
    ..b>Chorein (VPS13A), a cytoskeleton related protein whose defects had been associated with the presence of cell membrane ..
  3. doi Chorein sensitivity of actin polymerization, cell shape and mechanical stiffness of vascular endothelial cells
    Ioana Alesutan
    Department of Physiology, University of Tubingen, Tubingen, Germany
    Cell Physiol Biochem 32:728-42. 2013
    ..Actin polymerization and distribution of microfilaments is essential for mechanical cell stiffness. Chorein, a protein encoded by the VPS13A gene, defective in chorea-acanthocytosis (ChAc), is involved in neuronal cell ..
  4. ncbi [A case of chorea-acanthocytosis onset with at age 86]
    Masamichi Ikawa
    Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui
    Rinsho Shinkeigaku 45:603-6. 2005
    ..She was diagnosed as having chorea-acanthocytosis (ChAc) because acanthocytes (10-20%) appeared in the peripheral blood...
  5. ncbi Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    C Dobson-Stone
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Eur J Hum Genet 10:773-81. 2002
    ..The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions ..
  6. ncbi Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis
    S Saiki
    Department of Neurology, Kanazawa Medical University, Ishikawa, Japan
    Neurology 61:1614-6. 2003
    Although mutations in the CHAC gene have been identified in autosomal recessive chorea-acanthocytosis (AR-ChAc), the molecular basis of autosomal dominant ChAc (AD-ChAc) remains to be determined...
  7. ncbi Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis
    Abdullah Al-Asmi
    Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
    Epilepsia 46:1256-63. 2005
    Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis...
  8. pmc Alterations of red cell membrane properties in nneuroacanthocytosis
    Claudia Siegl
    Max F Perutz Laboratories, Medical University of Vienna, Vienna, Austria
    PLoS ONE 8:e76715. 2013
    Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN)..
  9. pmc Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis
    Marie Miquel
    Service de Neurologie, CHU Bordeaux, Bordeaux, France Service de Neurologie, CH François Mitterrand, Pau, France
    PLoS ONE 8:e79241. 2013
    Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy...
  10. ncbi [Specific features of diagnosis of hormonal insufficiency in patients with tumors of the adrenal cortex]
    L I Velikanova
    Vestn Khir Im I I Grek 164:43-5. 2005
    ..the adrenal steroidogenesis characteristic of the obliterated form of congenital hyperplasia of the adrenal cortex (CHAC) with a defect of 11beta-hydroxylase on the basis of the following biochemical criteria: the elevation in blood of ..
  11. doi Chorea-acanthocytosis: report of three cases from Iran
    Siamak Karkheiran
    Movement Disorders Clinic, Rasool Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran
    Arch Iran Med 15:780-2. 2012
    ..Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay...
  12. pmc Mammalian proapoptotic factor ChaC1 and its homologues function as γ-glutamyl cyclotransferases acting specifically on glutathione
    Akhilesh Kumar
    CSIR Institute of Microbial Technology, Sector 39 A, Chandigarh 160036, India
    EMBO Rep 13:1095-101. 2012
    ..We show using in vivo studies and novel in vitro assays that the ChaC family of proteins function as γ-glutamyl cyclotransferases acting specifically to degrade glutathione but not ..
  13. ncbi [Hereditary chorea--update]
    Akira Sano
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences
    Rinsho Shinkeigaku 44:932-4. 2004
    ..The XK gene on the X chromosome is mutated to lose its function in McLeod syndrome. CHAC gene coding chorein is mutated to lead loss of function in chorea-acanthocytosis...
  14. ncbi Effect of glutamine and spray-dried plasma on growth performance, small intestinal morphology, and immune responses of Escherichia coli K88+-challenged weaned pigs
    G F Yi
    Department of Animal Science, University of Missouri, Columbia 65211, USA
    J Anim Sci 83:634-43. 2005
    ..Pigs were allotted to four treatments including: 1) nonchallenged control (NONC); 2) challenged control (CHAC); 3) 7% (as-fed basis) spray-dried plasma (SDP); and 4) 2% (as-fed basis) glutamine (GLN)...
  15. doi Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin
    Nari Shiokawa
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Biochem Biophys Res Commun 441:96-101. 2013
    ..VPS13A encodes chorein whose physiological function at the molecular level is poorly understood...
  16. doi Chorein sensitivity of cytoskeletal organization and degranulation of platelets
    Eva Maria Schmidt
    Department of Physiology, University of Tubingen, Gmelinstrasse 5, 72076 Tubingen, Germany
    FASEB J 27:2799-806. 2013
    Chorea-acanthocytosis (ChAc), a lethal disease caused by defective chorein, is characterized by neurodegeneration and erythrocyte acanthocytosis. The functional significance of chorein in other cell types remained ill-defined...
  17. ncbi Chorein detection for the diagnosis of chorea-acanthocytosis
    Carol Dobson-Stone
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Ann Neurol 56:299-302. 2004
    ..It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed...
  18. doi Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Mov Disord 27:539-43. 2012
    ..These studies may provide a better understanding of the function of the associated proteins and provide insight into the pathogenesis of these disorders...
  19. doi Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis
    Michael Foller
    Department of Physiology, Universitat Tubingen, Tubingen, Germany
    FASEB J 26:1526-34. 2012
    ..by loss-of-function mutations of the gene encoding vacuolar protein sorting-associated protein 13A (VPS13A) or chorein, a protein with unknown function expressed in various cell types...
  20. doi Additional role of O-acetylserine as a sulfur status-independent regulator during plant growth
    Hans Michael Hubberten
    Max Planck Institut fur Molekulare Pflanzenphysiologie, Am Muhlenberg 1, Potsdam Golm, Germany
    Plant J 70:666-77. 2012
    ..1, sulfur-deficiency-induced 2, low-sulfur-induced 1, serine hydroxymethyltransferase 7 and ChaC-like protein)...
  21. pmc Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis
    Lucia De Franceschi
    Department of Medicine, University of Verona, Verona, Italy
    PLoS ONE 7:e31015. 2012
    ..disorders, namely McLeod syndrome (MLS, XK-related, Xk protein) and chorea-acanthocytosis (ChAc, VPS13A-related, chorein protein)...
  22. doi Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells
    Takehiro Hayashi
    Department of Biochemistry and Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan
    Biochem Biophys Res Commun 419:511-6. 2012
    ..disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene encoding chorein. Although a deficiency in chorein function leads to apoptosis of striatal neurons in ChAc model mouse, its ..
  23. doi Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosis
    Hyeeun Shin
    Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
    Stereotact Funct Neurosurg 90:273-7. 2012
    We report a 39-year-old woman with chorea-acanthocytosis (ChAc) who was referred with refractory hyperkinetic movement and truncal bending spasm...
  24. doi Chorea-acanthocytosis presenting as motor neuron disease
    Dulce Neutel
    Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Avenida Professor Egas Moniz, 1648 028 Lisboa, Portugal
    Muscle Nerve 45:293-5. 2012
    Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy.
  25. doi Bilateral temporal lobe epilepsy confirmed with intracranial EEG in chorea-acanthocytosis
    Benedikt Bader
    Neurologische Klinik und Poliklinik, Ludwig Maximilians Universitat, Marchioninistr 15, 81377 Munchen, Germany
    Seizure 20:340-2. 2011
    Chorea-acanthocytosis (ChAc) is an uncommon basal ganglia disorder, in which the movement disorder element may be obscured by the predominance of seizures...
  26. doi Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia
    Hirochika Shimo
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Neurosci Res 69:196-202. 2011
    Neuroacanthocytosis syndromes are mainly comprised of two diseases: chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS)...
  27. doi The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytes
    Natlada Kanjanasut
    Chulalongkorn Comprehensive Movement Disorders Center, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand
    Clin Neurol Neurosurg 112:541-3. 2010
    ..Among those, chorea-acanthocytosis (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked dysarthria and ..
  28. ncbi [Adult-onset case of idiopathic neurodegeneration with brain iron accumulation without mutations in the PANK2 and PLA2G6 genes]
    Shinji Saiki
    Department of Neurology, Juntendo University School of Medicine
    Rinsho Shinkeigaku 49:474-8. 2009
    ..Kell antigen expressions of the red blood cells were within normal limit. Western blot analysis with anti-chorein antibody detected normal chorein expression levels of the red blood cells...
  29. pmc Shape alterations in the striatum in chorea-acanthocytosis
    Mark Walterfang
    Neuropsychiatry Unit, Royal Melbourne Hospital 3050, Australia
    Psychiatry Res 192:29-36. 2011
    ..uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome...
  30. doi Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis
    Akiyuki Tomiyasu
    Department of Psychiatry, Graduate School of Medical and Dental Sciences, Kagoshima University, Japan
    Am J Med Genet B Neuropsychiatr Genet 156:620-31. 2011
    ..caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms...
  31. doi Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability
    Chang Hyeok An
    Department of General Surgery, College of Medicine, The Catholic University of Korea, Seoul, 137 701 Korea
    Hum Pathol 43:40-7. 2012
    ....
  32. ncbi Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
    Guilherme Riccioppo Rodrigues
    Department of Neuroscience and Behaviour Sciences, Ribeirao Preto School of Medicine, University of Sao Paulo, Brazil
    Arq Neuropsiquiatr 69:419-23. 2011
    ..ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype...
  33. pmc Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity
    Lucia De Franceschi
    Department of Medicine, University of Verona, Piazzale Lo Scuro 10, Verona, Italy
    Blood 118:5652-63. 2011
    Acanthocytic RBCs are a peculiar diagnostic feature of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder...
  34. doi Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred
    Antonio Velayos-Baeza
    The Wellcome Trust Centre for Human Genetics, Oxford, England
    Arch Neurol 68:1330-3. 2011
    ..The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion...
  35. pmc Neuroacanthocytosis syndromes
    Hans H Jung
    Department of Neurology, University Hospital Zurich, Zurich, Switzerland
    Orphanet J Rare Dis 6:68. 2011
    ..Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients...
  36. ncbi Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula
    Saeed Bohlega
    King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mov Disord 18:403-7. 2003
    ..Although the clinical presentation was variable, the genetic studies on these three Saudi Arabian families with chorea-acanthocytosis provide strong evidence for a genetic locus for chorea-acanthocytosis at chromosome 9q21...
  37. doi Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond
    Christine Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 24:2042-58. 2009
    ..Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.
  38. doi [Chorea-acanthocytosis without acanthocytes]
    C Bayreuther
    Service de Neurologie, Hopital Pasteur, CHU de Nice, 30, Voie Romaine, 06002 Nice, France
    Rev Neurol (Paris) 166:100-3. 2010
    Chorea-acanthocytosis (ChAc) is one of the neuroacanthocytosis syndromes which form a group of disorders characterized by the association of neurological abnormalities and spiculated red blood cells called acanthocytes...
  39. ncbi Neuroacanthocytosis: a rare inherited movement disorder
    I Looi
    Department of Medicine, Penang Hospital, Kuala Lumpur
    Med J Malaysia 63:157-8. 2008
    The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease...
  40. ncbi Early clinical heterogeneity in choreoacanthocytosis
    Alexander Lossos
    Department of Neurology, Hadassah Hebrew Unviersity Hospital, Jerusalem, Israel
    Arch Neurol 62:611-4. 2005
    Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene.
  41. ncbi Neuroacanthocytosis: new developments in a neglected group of dementing disorders
    Adrian Danek
    Neurologische Klinik und Poliklinik, Ludwig Maximilians Universität Marchioninistr 15 D 81366 Munich, Germany
    J Neurol Sci 229:171-86. 2005
    ..The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS)...
  42. pmc Chorea-acanthocytosis: genetic linkage to chromosome 9q21
    J P Rubio
    The Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    Am J Hum Genet 61:899-908. 1997
    Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life...
  43. ncbi A gene-targeted mouse model for chorea-acanthocytosis
    Yuko Tomemori
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Ental Sciences, Kagoshima, Japan
    J Neurochem 92:759-66. 2005
    ..Recently, we identified the gene, CHAC, encoding a novel protein, chorein, in which a deletion mutation was found in Japanese families with CHAC...
  44. ncbi Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients
    Alexander Storch
    Dept of Neurology, University of Ulm, 89081 Ulm, Germany
    J Neurol 252:84-90. 2005
    ..the hallmark of the clinical diagnosis of most neuroacanthocytosis syndromes, such as chorea-acanthocytosis (ChAc) and McLeod syndrome...
  45. ncbi Analysis of the human VPS13 gene family
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, OX3 7BN Oxford, UK
    Genomics 84:536-49. 2004
    The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein...
  46. ncbi Chorea-acanthocytosis associated with Tourettism
    Shinji Saiki
    Department of Neurology, Kanazawa Medical University, Ishikawa, Japan
    Mov Disord 19:833-6. 2004
    We report on a case of Chorea-acanthocytosis (ChAc) in association with Tourettism that consisted of motor and vocal tics, attention deficit-hyperactivity disorder, and obsessive-compulsive disorder in addition to the typical symptoms of ..
  47. ncbi Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients
    Mariarosa A B Melone
    Department of Neurological Sciences, Second University of Naples School of Medicine, Policlinico Universitario Federico II, Italy
    J Neuropathol Exp Neurol 61:841-8. 2002
    Chorea-Acanthocytosis (CHAC) is an autosomal recessive disease characterized by neurodegeneration and acanthocytosis. Enhanced creatine kinase concentration is a constant feature of the condition. The mechanism underlying CHAC is unknown...
  48. ncbi [Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis]
    A Danek
    Neurologische Klinik, Ludwig Maximilians Universitat, Postfach 701260, 81366 München
    Nervenarzt 73:564-9. 2002
    ..their molecular bases, mutations of the X-linked gene XK and autosomal recessive mutations of the gene coding for chorein, respectively, the two phenotypes can now be differentiated and extend the diagnostic spectrum in patients ..
  49. ncbi McLeod neuroacanthocytosis: genotype and phenotype
    A Danek
    Neurologische Klinik, Ludwig Maximilians Universitat, Munchen, Germany
    Ann Neurol 50:755-64. 2001
    ..disease and with autosomal recessive chorea-acanthocytosis suggests that the corresponding proteins--XK, huntingtin, and chorein--might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia.
  50. ncbi The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
    S Ueno
    Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan
    Nat Genet 28:121-2. 2001
    ..and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a ..
  51. ncbi A conserved sorting-associated protein is mutant in chorea-acanthocytosis
    L Rampoldi
    The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom
    Nat Genet 28:119-20. 2001
    Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis)...
  52. ncbi Eye movements in chorea-acanthocytosis
    Libe Gradstein
    Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 46:1979-87. 2005
    To describe the eye movement abnormalities in patients with chorea-acanthocytosis (ChAc), a form of neuroacanthocytosis...
  53. ncbi Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis
    Carol Dobson-Stone
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK
    Neurogenetics 6:151-8. 2005
    Mutations in VPS13A cause chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder. VPS13A is located in a tail-to-tail arrangement with GNA14 on chromosome 9q21...
  54. ncbi Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study
    Karsten Henkel
    Department of Neurology, University of Ulm, Ulm, Germany
    Mov Disord 21:1728-31. 2006
    Chorea-acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, ..
  55. doi Chorea-acanthocytosis: report of two Brazilian cases
    Guilherme Riccioppo Rodrigues
    Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil
    Mov Disord 23:2090-3. 2008
    ..This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay...
  56. doi Automatic striatal volumetry allows for identification of patients with chorea-acanthocytosis at single subject level
    Hans Jurgen Huppertz
    Swiss Epilepsy Center, Bleulerstrasse 60, 8008, Zurich, Switzerland
    J Neural Transm 115:1393-400. 2008
    Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease with erythrocyte membrane dysfunction, progressive hyperkinesia, and neuropsychological abnormalities...
  57. doi A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A
    Chiho Ishida
    Department of Neurology, National Hospital Organization Iou Hospital, ni 73 1, Iwade machi, Kanazawa, 920 0192, Japan
    Acta Neuropathol 117:85-94. 2009
    We report the first autopsy case of genetically confirmed, autosomal-dominant chorea-acanthocytosis (AD-ChAc), showing a heterozygous mutation (G-A) at nucleotide position 8,295 in exon 57 of VPS13A...
  58. ncbi Adolescent obsessive compulsive disorder heralding chorea-acanthocytosis
    Mark Walterfang
    Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, Australia
    Mov Disord 23:422-5. 2008
    ..obsessive-compulsive disorder as a prelude to the development of a typical picture of chorea-acanthocytosis (ChAc). In each patient, the caudate nucleus showed dramatic atrophy...
  59. ncbi Choreoacanthocytosis in a Mexican family
    José L Ruiz-Sandoval
    Department of Neurology and Neurosurgery, Hospital Civil de Guadalajara Fray Antonio Alcalde, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
    Arch Neurol 64:1661-4. 2007
    Choreoacanthocytosis (CHAC) (Online Mendelian Inheritance in Man accession No...
  60. ncbi Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree
    Mio Ichiba
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima University, Japan
    J Neurol Sci 263:124-32. 2007
    Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene...
  61. ncbi Primary skeletal muscle involvement in chorea-acanthocytosis
    Shinji Saiki
    Department of Neurology, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Kahoku, Ishikawa 920 0293, Japan
    Mov Disord 22:848-52. 2007
    ..Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared ..
  62. ncbi Chorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and (123)I-beta-CIT-SPECT
    Kirsten R Müller-Vahl
    Department of Clinical Psychiatry and Psychotherapy, Medical School Hannover, Carl Neuberg Str 1, D 30625, Hannover, Germany
    J Neurol 254:1081-8. 2007
    We report on two 33 years old monozygotic twins with chorea-acanthocytosis (ChAc) misdiagnosed as schizophrenia and Tourette syndrome, respectively...
  63. ncbi Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C
    Emiko Mizuno
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Biochem Biophys Res Commun 353:902-7. 2007
    Mutations in vacuolar protein sorting 13A (VPS13A) gene are responsible for chorea-acanthocytosis (ChAc)...
  64. ncbi In vivo distribution and localization of chorein
    Yutaka Kurano
    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Biochem Biophys Res Commun 353:431-5. 2007
    ..is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. In this study, we produced an antibody against chorein and examined its protein-level expression and ..
  65. ncbi Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor
    Yutaka Kurano
    Department of Psychiatry, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890 8520, Japan
    Biochem Biophys Res Commun 351:438-42. 2006
    ..is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. Recently, using a gene-targeting technique to delete exons 60-61, we produced a ChAc-model mouse that ..
  66. ncbi A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia
    Mohammad Hossein Harirchian
    Department of Neurology, Imam Khomeini Hospital, Iranian Centre of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
    Neurol India 54:296-7. 2006
    Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis...
  67. ncbi Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC)
    J P Rubio
    The Wellcome Trust Centre for Human Genetics, Windmill Road, Headington, OX3 7BN, England
    Genomics 57:84-93. 1999
    Chorea-acanthocytosis (CHAC) (OMIM 200150) is a rare neurological syndrome characterized by neurodegeneration in combination with morphologically abnormal red cells (acanthocytosis)...